{
    "disease_id": "DOID:0061130",
    "recommended_name": {
        "id": "DOID:0061130",
        "resource": "Disease Ontology",
        "url": "http://disease-ontology.org/term/DOID:0061130",
        "name": "autosomal recessive limb-girdle muscular dystrophy type 28",
        "description": "An autosomal recessive limb-girdle muscular dystrophy characterized by progressive muscle weakness affecting the proximal and axial muscles of the upper and lower limbs that has_material_basis_in homozygous or compound heterozygous mutation in the HMGCR gene on chromosome 5q13."
    },
    "synonyms": [
        {
            "id": "DOID:0061130",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0061130",
            "name": "LGMDR28",
            "description": ""
        },
        {
            "id": "DOID:0061130",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0061130",
            "name": "Limb-girdle, type 28R",
            "description": ""
        },
        {
            "id": "MONDO:0957270",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0957270",
            "name": "muscular dystrophy, limb-girdle, autosomal recessive 28",
            "description": ""
        },
        {
            "id": "MIM:620375",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/620375",
            "name": "Muscular dystrophy, limb-girdle, autosomal recessive 28",
            "description": "Muscular dystrophy, limb-girdle, autosomal recessive 28"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0061130"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0061130",
            "database": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0061130",
            "categories": []
        },
        {
            "id": "MONDO:0957270",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0957270",
            "categories": []
        },
        {
            "id": "MIM:620375",
            "database": "MIM",
            "url": "https://www.omim.org/entry/620375",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "P04035-1",
            "uniprot_ac": "P04035",
            "uniprot_id": "HMDH_HUMAN",
            "refseq_ac": "NP_000850",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "3-hydroxy-3-methylglutaryl-coenzyme A reductase",
                    "resource": "UniProtKB",
                    "type": "recommended"
                },
                {
                    "name": "1.1.1.34",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "3-hydroxy-3-methylglutaryl-Coenzyme A reductase isoform 1",
                    "resource": "RefSeq",
                    "type": "synonym"
                },
                {
                    "name": "3-hydroxy-3-methylglutaryl-Coenzyme A reductase; hydroxymethylglutaryl-CoA reductase; 3-hydroxy-3-methylglutaryl CoA reductase (NADPH); HMG-CoA reductase",
                    "resource": "RefSeq",
                    "type": "synonym"
                },
                {
                    "name": "HMG-CoA reductase",
                    "resource": "UniProtKB",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "HMGCR",
                    "resource": "UniProtKB",
                    "type": "recommended"
                },
                {
                    "name": "HMGCR",
                    "resource": "RefSeq",
                    "type": "synonym"
                },
                {
                    "name": "LDLCQ3; LGMDR28; MYPLG",
                    "resource": "RefSeq",
                    "type": "synonym"
                }
            ],
            "evidence": [
                {
                    "id": "620375",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/620375"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0061130"
}